Генетические аспекты анкилозирующего спондилита
DOI: https://doi.org/10.29296/25877305-2019-12-19
Номер журнала:
12
Год издания:
2019
Представлен обзор по генетическим аспектам анкилозирующего спондилита (АС) – хронического воспалительного заболевания аутоиммуного происхождения с преимущественным поражением аксиального скелета. С начала эпохи полногеномного поиска ассоциаций (GWAS) выявлено более 150 локусов, ассоциированных с АС, но это позволяет объяснить не более 30% случаев наследования. В обзоре предпринята попытка понять роль представленных генов в развитии АС. Продолжение исследований в указанном направлении позволит создать предпосылки к появлению новых целей для таргетной терапии.
Ключевые слова:
анкилозирующий спондилит
HLA-B27
фактор некроза опуходи
ERAP1
одиночный нуклеотидный полиморфизм
генетика
Для цитирования
Мордовский В., Капустина Е., Чернова А., Никулина С., Аксютина Н., Потупчик Т. Генетические аспекты анкилозирующего спондилита
. Врач, 2019; (12): 71-75 https://doi.org/10.29296/25877305-2019-12-19Список литературы:
- Li Z., Haynes K., Pennisi D. et al. Epigenetic and gene expression analysis of ankylosing spondylitis-associated loci implicate immune cells and the gut in the disease pathogenesis // Genes and Immunity. – 2017; 18 (3): 135–43. DOI: 10.1038/gene.2017.11.
- Ranganathan V., Gracey E., Brown M. et al. Pathogenesis of ankylosing spondylitis – recent advances and future directions // Nat. Rev. Rheumatol. – 2017; 13 (6): 359–67. DOI: 10.1038/nrrheum.2017.56.
- Brown M., Kenna T., Wordsworth B. Genetics of ankylosing spondylitis - insights into pathogenesis // Nat. Rev. Rheumatol. – 2015; 12 (2): 81–91. DOI: 10.1038/nrrheum.2015.133.
- Ranganathan V., Gracey E., Brown M. et al. Pathogenesis of ankylosing spondylitis - recent advances and future directions // Nat. Rev. Rheumatol. – 2017; 13 (6): 359–67. DOI: 10.1038/nrrheum.2017.56.
- Hanson A., Brown M. Genetics and the Causes of Ankylosing Spondylitis. // Rheum. Dis. Clin. North Am. – 2017; 43 (3): 401–14. DOI: 10.1016/j.rdc.2017.04.006.
- Dashti N., Mahmoudi M., Aslani S. et al. HLA-B*27 subtypes and their implications in the pathogenesis of ankylosing spondylitis // Gene. – 2018; 670: 15–21. DOI: 10.1016/j.gene.2018.05.092.
- Colbert R., Tran T., Layh-Schmitt G. HLA-B27 misfolding and ankylosing spondylitis // Mol. Immunol. – 2014; 57 (1): 44–51. DOI: 10.1016/j.molimm.2013.07.013.
- Dashti N., Mahmoudi M., Aslani S. et al. HLA-B*27 subtypes and their implications in the pathogenesis of ankylosing spondylitis // Gene. – 2018; 670: 15–21. DOI: 10.1016/j.gene.2018.05.092.
- Schittenhelm R., Sian T., Wilmann P. et al. Revisiting the Arthritogenic Peptide Theory: Quantitative Not Qualitative Changes in the Peptide Repertoire of HLA-B27 Allotypes // Arthritis & Rheumatology. – 2015; 67 (3): 702–13. DOI: 10.1002/art.38963.
- Lin H., Gong Y.-Z. Association of HLA-B27 with ankylosing spondylitis and clinical features of the HLA-B27-associated ankylosing spondylitis: a meta-analysis // Rheumatol. Int. – 2017; 37 (8): 1267–80. DOI: 10.1007/s00296-017-3741-2.
- Cortes A., Pulit S., Leo P. et al. Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1 // Nature Communications. – 2015; 6 (1): 3–11. DOI: 10.1038/ncomms8146.
- Li H., Li Q., Ji C. et al. Ankylosing Spondylitis Patients with HLA-B*2704 have More Uveitis than Patients with HLA-B*2705 in a North Chinese Population // Ocular Immunol. Inflamm. – 2016; 26 (1): 65–9. DOI: 10.1080/09273948.2016.1188967.
- Chen L., Shi H., Yuan J. et al. Position 97 of HLA-B, a residue implicated in pathogenesis of ankylosing spondylitis, plays a key role in cell surface free heavy chain expression // Ann. Rheum. Dis. – 2016; 76 (3): 593–601. DOI: 10.1136/annrheumdis-2016-209512.
- Li Z., Brown M. Progress of genome-wide association studies of ankylosing spondylitis. // Clin. Transl. Immunol. – 2017; 6 (12): e163. DOI: 10.1038/cti.2017.49.
- Kenna T., Robinson P., Haroon N. Endoplasmic reticulum aminopeptidases in the pathogenesis of ankylosing spondylitis // Rheumatology. – 2015; 54 (9): 1549–56. DOI: 10.1093/rheumatology/kev218.
- Meng Q., Zhang X., Liu X. et al. Association of PTPN22 polymorphsims and ankylosing spondylitis susceptibility // Int. J. Clin. Experim. Pathol. – 2015; 8 (1): 933–7.
- Lee Y., Song G. Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis // Clin. Rheumatol. – 2016; 35 (8): 2009–15. DOI: 10.1007/s10067-016-3287-9.
- Martin-Esteban A., Sanz-Bravo A., Guasp P. et al. Separate effects of the ankylosing spondylitis associated ERAP1 and ERAP2 aminopeptidases determine the influence of their combined phenotype on the HLA-B*27 peptidome // J. Autoimmun. – 2017; 79 (4): 28–38. DOI: 10.1016/j.jaut.2016.12.008.
- Andrés A., Dennis M., Kretzschmar W. et al. Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation // PLoS Genet. – 2010; 6 (10): e1001157. DOI: 10.1371/journal.pgen.1001157.
- Robinson P., Costello M., Leo P. et al. ERAP2 is associated with ankylosing spondylitis inHLA-B27-positive and HLA-B27-negative patients // Ann. Rheum. Dis. – 2015; 74 (8): 1627–9. DOI: 10.1136/annrheumdis-2015-207416.
- Raychaudhuri S., Raychaudhuri S. IL-23/IL-17 axis in spondyloarthritis-bench to bedside // Clin. Rheumatol. – 2016; 35 (6): 1437–41. DOI: 10.1007/s10067-016-3263-4.
- Cortes A., Hadler J., Pointon J. et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci // Nat. Gen. – 2013; 45: 730–8.
- Ghoreschi K., Laurence A., Yang X. et al. Generation of pathogenic T(H)17 cells in the absence of TGF-beta signaling // Nature. – 2010; 467: 967–71. DOI: 10.1038/nature09447.
- Lee Y., Song G. Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: an updated meta-analysis // Zeitschrift für Rheumatologie. – 2018; 78 (3): 272–80. DOI: 10.1007/s00393-018-0472-z.
- Vidal-Castiñeira J., López-Vázquez A., Diaz-Peña R. et al. A Single Nucleotide Polymorphism in the Il17ra Promoter Is Associated with Functional Severity of Ankylosing Spondylitis // Public Library of Science. – 2016; 11 (7): e0158905. DOI: 10.1371/journal.pone.0158905.
- Zhang L., Fan D., Liu L. et al. Association Study of IL-12B Polymorphisms Susceptibility with Ankylosing Spondylitis in Mainland Han Population // Public Library of Science. – 2015; 10 (6): e0130982. DOI: 10.1371/journal.pone.0130982.
- Yang B., Xu Y., Liu X. et al. IL-23R and IL-17A polymorphisms correlate with susceptibility of ankylosing spondylitis in a Southwest Chinese population // Oncotarget. – 2017; 8 (41): 70310–6. DOI: 10.18632/oncotarget.20319.
- Ruan W., Xie J., Jin Q. et al. The Diagnostic and Prognostic Role of Interleukin 12B and Interleukin 6R Gene Polymorphism in Patients With Ankylosing Spondylitis // J. Clin. Rheumatol. – 2017; 24 (1): 18–24. DOI: 10.1097/rhu.0000000000000610.
- Kaplanski G. Interleukin-18: Biological properties and role in disease pathogenesis // Immunol. Rev. – 2017; 281 (1): 138–53. DOI: 10.1111/imr.12616.
- Manolova I., Ivanova M., Boyadzhieva V. et al. Elevated serum levels of IL-18 in patients with rheumatoid arthritis and ankylosing spondylitis // Revmatologiia (Bulgaria). – 2013; 21 (2): 35–41.
- Ivanova M., Manolova I., Goycheva P. et al. Serum cytokines (TNF-alpha and IL-18) in ankylosing spondylitis in relation to disease activity // Comptes rendus de l’Académie bulgare des sciences: sciences mathématiques et naturelles. – 2014; 67 (4): 593–602.
- Sode J., Bank S., Vogel U. et al. Genetically determined high activities of the TNF-alpha, IL23/IL17, and NFkB pathways were associated with increased risk of ankylosing spondylitis. // BMC Med. Genet. – 2018; 19 (1): 165. DOI: 10.1186/s12881-018-0680-z.
- Wang W., Liu Y., Ma X. et al. Association Between Protein Tyrosine Phosphatase Non-Receptor Type 22 (PTPN22) Polymorphisms and Risk of Ankylosing Spondylitis: A Meta-analysis // Med. Sci. Monit. – 2017; 23: 2619–24. DOI: 10.12659/MSM.901083.
- Meng Q., Zhang X., Liu X. et al. Association of PTPN22 polymorphsims and ankylosing spondylitis susceptibility // Int. J. Clin. Experim. Pathol. – 2015; 8 (1): 933–7.
- El-Lebedy D., Raslan H., Ibrahim A. et al. Association of STAT4 rs7574865 and PTPN22 rs2476601 polymorphisms with rheumatoid arthritis and non-systemically reacting antibodies in Egyptian patients // Clin Rheumatol. – 2017; 36 (9): 1981–7. DOI: 10.1007/s10067-017-3632-7.
- Dahmani C., Benzaoui A., Amroun H. et al. Association of the HLA-B27 antigen and the CTLA4 gene CT60/rs3087243 polymorphism with ankylosing spondylitis in Algerian population: A case-control study // Int. J. Immunogen. – 2018; 45 (3): 109–17. DOI: 10.1111/iji.12369.
- Wu J., Zhang L., Zhou Y. The association between CTLA-4 (+49 A/G) polymorphism and susceptibility to ankylosing spondylitis: a meta-analysis // Int. J. Rheum. Dis. – 2015; 19 (12): 1237–43. http://dx.doi.org/10.1111/1756-185x.12705.
- Huang C.-H., Wei J., Chen C.-C. et al. Associations of the PTPN22 and CTLA-4 genetic polymorphisms with Taiwanese ankylosing spondylitis // Rheumatol. Int. – 2014; 34 (5): 683–91. DOI: 10.1007/s00296-013-2894-x.
- Гусева И.А., Лучихина Е.Л., Абрамов Д.Д. и др. Полиморфизм гена CTLA-4 (+49A>G) – предиктор раннего назначения генно-инженерных биологических препаратов у больных ранним ревматоидным артритом, не отвечающих на терапию метотрексатом. Молекулярная диагностика, 2017. Сб. тр. IX Всеросс. научно-практ. конф. с междунар. участием. 2017, 526–7 [Guseva I.A., Luchikhina E.L., Abramov D.D. et al. Polimorfizm gena CTLA-4 (+49A>G) – prediktor rannego naznacheniya genno- inzhenernykh biologicheskikh preparatov u bol’nykh rannim revmatoidnym artritom, ne otvechayushchikh na terapiyu metotreksatom. Molekulyarnaya diagnostika, 2017. Sb. Tr. IX Vseross. nauchno-prakt. konf. s mezhdunar. uchastiem. 2017; 526–7 (in Russ.)].
- Ntusi N., Francis J., Sever E. et al. Anti-TNF modulation reduces myocardial inflammation and improves cardiovascular function in systemic rheumatic diseases // Int. J. Cardiol. – 2018; 270: 253–9. DOI: 10.1016/j.ijcard.2018.06.099.
- Hu N., Cui Y., Yang Q. et al. Association of polymorphisms in TNF and GRN genes with ankylosing spondylitis in a Chinese Han population // Rheumatol. Int. – 2018; 38 (3): 481–7. DOI: 10.1007/s00296-017-3899-7.